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Sökning: WFRF:(Hosono S)

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  • Meeks, Huong D., et al. (författare)
  • BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
  • Ingår i: Journal of the National Cancer Institute. - : Oxford University Press. - 0027-8874 .- 1460-2105. ; 108:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: The K3326X variant in BRCA2 (BRCA2∗c.9976A>T p.Lys3326∗rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormonerelated cancers. Methods: Using weighted logistic regression, we analyzed data from the large iCOGS study including 76637 cancer case patients and 83796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. Using Cox proportional hazards modeling, we also examined the associations of K3326X with breast and ovarian cancer risks among 7183 BRCA1 variant carriers. All statistical tests were two-sided. Results: The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9×10-6) and invasive ovarian cancer (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8×10-3). These associations were stronger for serous ovarian cancer and for estrogen receptor-negative breast cancer (ORw = 1.46, 95% CI = 1.2 to 1.70, P = 3.4×10-5 and ORw = 1.50, 95% CI = 1.28 to 1.76, P = 4.1×10-5, respectively). For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer. No association with prostate cancer was observed. Conclusions: Our study provides evidence that the K3326X variant is associated with risk of developing breast and ovarian cancers independent of other pathogenic variants in BRCA2. Further studies are needed to determine the biological mechanism of action responsible for these associations.
  • Gkourogianni, Alexandra, et al. (författare)
  • Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
  • 2017
  • Ingår i: Journal of Clinical Endocrinology and Metabolism. - Cary, USA : OXFORD UNIV PRESS INC. - 0021-972X .- 1945-7197. ; 102:2, s. 460-469
  • Tidskriftsartikel (refereegranskat)abstract
    • Context: Heterozygous mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with accelerated skeletal maturation. Objective: We sought to characterize the phenotypic spectrum and response to growth-promoting therapies. Patients and Methods: One hundred three individuals (57 females, 46 males) from 20 families with autosomal dominant short stature and heterozygous ACAN mutations were identified and confirmed using whole-exome sequencing, targeted next-generation sequencing, and/or Sanger sequencing. Clinical information was collected from the medical records. Results: Identified ACAN variants showed perfect cosegregation with phenotype. Adult individuals had mildly disproportionate short stature [median height, -2.8 standard deviation score (SDS); range, -5.9 to -0.9] and a history of early growth cessation. The condition was frequently associated with early-onset osteoarthritis (12 families) and intervertebral disc disease (9 families). No apparent genotype-phenotype correlation was found between the type of ACAN mutation and the presence of joint complaints. Childhood height was less affected (median height, -2.0 SDS; range, -4.2 to -0.6). Most children with ACAN mutations had advanced bone age (bone age - chronologic age; median, + 1.3 years; range, + 0.0 to + 3.7 years). Nineteen individuals had received growth hormone therapy with some evidence of increased growth velocity. Conclusions: Heterozygous ACAN mutations result in a phenotypic spectrum ranging from mild and proportionate short stature to a mild skeletal dysplasia with disproportionate short stature and brachydactyly. Many affected individuals developed early-onset osteoarthritis and degenerative disc disease, suggesting dysfunction of the articular cartilage and intervertebral disc cartilage. Additional studies are needed to determine the optimal treatment strategy for these patients.
  • Haindl, S., et al. (författare)
  • Thin film growth of Fe-based superconductors : from fundamental properties to functional devices. A comparative review
  • 2014
  • Ingår i: Reports on progress in physics (Print). - 0034-4885 .- 1361-6633. ; 77:4, s. 046502-
  • Forskningsöversikt (refereegranskat)abstract
    • Fe-based superconductors bridge a gap between MgB2 and the cuprate high temperature superconductors as they exhibit multiband character and transition temperatures up to around 55 K. Investigating Fe-based superconductors thus promises answers to fundamental questions concerning the Cooper pairing mechanism, competition between magnetic and superconducting phases, and a wide variety of electronic correlation effects. The question addressed in this review is, however, is this new class of superconductors also a promising candidate for technical applications? Superconducting film-based technologies range from high-current and high-field applications for energy production and storage to sensor development for communication and security issues and have to meet relevant needs of today's society and that of the future. In this review we will highlight and discuss selected key issues for Fe-based superconducting thin film applications. We initially focus our discussion on the understanding of physical properties and actual problems in film fabrication based on a comparison of different observations made in the last few years. Subsequently we address the potential for technological applications according to the current situation.
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